Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7084
Gene name	Thymidine kinase 2
Gene symbol	TK2
Synonyms (NCBI Gene)	MTDPS2MTTKPEOB3SCA31TK2-EXT
Chromosome	16
Chromosome location	16q21
Summary	This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associ

Show/Hide all (36)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137854429	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137854430	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137854431	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137854432	G>C	Pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs137886900	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, intron variant, coding sequence variant, missense variant, non coding transcript variant
rs138439950	T>C	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs142291440	T>C	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, intron variant, coding sequence variant
rs281865486	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs281865488	G>A,C	Pathogenic	Synonymous variant, missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs281865489	G>A	Likely-pathogenic, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs281865490	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865491	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs281865492	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865493	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865494	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865495	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs281865496	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs281865497	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865499	A>G,T	Pathogenic	Splice donor variant
rs281865500	CTTT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs281865501	TCT>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, inframe deletion
rs281865502	->A	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs281865503	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs281865504	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs281865505	->CG	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs281865506	->TA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs281865507	GC>TT	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs374777494	C>A,T	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs746707855	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs747276038	T>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs748655443	A>G	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs749123392	C>A,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs886039669	GA>AG	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs886041321	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained, intron variant
rs886041794	T>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained, intron variant
rs1194187379	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

222

Show/Hide all (222)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017549	hsa-miR-335-5p	Microarray	18185580
MIRT1425935	hsa-miR-129-3p	CLIP-seq
MIRT1425936	hsa-miR-1908	CLIP-seq
MIRT1425937	hsa-miR-19a	CLIP-seq
MIRT1425938	hsa-miR-19b	CLIP-seq
MIRT1425939	hsa-miR-2355-5p	CLIP-seq
MIRT1425940	hsa-miR-3126-5p	CLIP-seq
MIRT1425941	hsa-miR-3937	CLIP-seq
MIRT1425942	hsa-miR-3938	CLIP-seq
MIRT1425943	hsa-miR-663	CLIP-seq
MIRT1425944	hsa-let-7a	CLIP-seq
MIRT1425945	hsa-let-7b	CLIP-seq
MIRT1425946	hsa-let-7c	CLIP-seq
MIRT1425947	hsa-let-7d	CLIP-seq
MIRT1425948	hsa-let-7e	CLIP-seq
MIRT1425949	hsa-let-7f	CLIP-seq
MIRT1425950	hsa-let-7g	CLIP-seq
MIRT1425951	hsa-let-7i	CLIP-seq
MIRT1425952	hsa-miR-1224-3p	CLIP-seq
MIRT1425953	hsa-miR-1266	CLIP-seq
MIRT1425954	hsa-miR-1276	CLIP-seq
MIRT1425955	hsa-miR-139-3p	CLIP-seq
MIRT1425956	hsa-miR-15a	CLIP-seq
MIRT1425957	hsa-miR-15b	CLIP-seq
MIRT1425958	hsa-miR-16	CLIP-seq
MIRT1425959	hsa-miR-1913	CLIP-seq
MIRT1425960	hsa-miR-195	CLIP-seq
MIRT1425961	hsa-miR-214	CLIP-seq
MIRT1425962	hsa-miR-2278	CLIP-seq
MIRT1425963	hsa-miR-3117-5p	CLIP-seq
MIRT1425964	hsa-miR-3180-5p	CLIP-seq
MIRT1425965	hsa-miR-324-3p	CLIP-seq
MIRT1425966	hsa-miR-338-3p	CLIP-seq
MIRT1425967	hsa-miR-3613-3p	CLIP-seq
MIRT1425968	hsa-miR-3619-5p	CLIP-seq
MIRT1425969	hsa-miR-3664-3p	CLIP-seq
MIRT1425970	hsa-miR-3671	CLIP-seq
MIRT1425971	hsa-miR-3927	CLIP-seq
MIRT1425972	hsa-miR-424	CLIP-seq
MIRT1425973	hsa-miR-4303	CLIP-seq
MIRT1425974	hsa-miR-4311	CLIP-seq
MIRT1425975	hsa-miR-4436a	CLIP-seq
MIRT1425976	hsa-miR-4451	CLIP-seq
MIRT1425977	hsa-miR-4458	CLIP-seq
MIRT1425978	hsa-miR-4500	CLIP-seq
MIRT1425979	hsa-miR-450b-5p	CLIP-seq
MIRT1425980	hsa-miR-4518	CLIP-seq
MIRT1425981	hsa-miR-4663	CLIP-seq
MIRT1425982	hsa-miR-4690-5p	CLIP-seq
MIRT1425983	hsa-miR-4704-5p	CLIP-seq
MIRT1425984	hsa-miR-4714-3p	CLIP-seq
MIRT1425985	hsa-miR-4732-5p	CLIP-seq
MIRT1425986	hsa-miR-4733-5p	CLIP-seq
MIRT1425987	hsa-miR-4762-3p	CLIP-seq
MIRT1425988	hsa-miR-4782-5p	CLIP-seq
MIRT1425989	hsa-miR-497	CLIP-seq
MIRT1425990	hsa-miR-518a-5p	CLIP-seq
MIRT1425991	hsa-miR-520a-5p	CLIP-seq
MIRT1425992	hsa-miR-525-5p	CLIP-seq
MIRT1425993	hsa-miR-526b	CLIP-seq
MIRT1425994	hsa-miR-527	CLIP-seq
MIRT1425995	hsa-miR-539	CLIP-seq
MIRT1425996	hsa-miR-548p	CLIP-seq
MIRT1425997	hsa-miR-583	CLIP-seq
MIRT1425998	hsa-miR-605	CLIP-seq
MIRT1425999	hsa-miR-607	CLIP-seq
MIRT1426000	hsa-miR-634	CLIP-seq
MIRT1426001	hsa-miR-646	CLIP-seq
MIRT1426002	hsa-miR-761	CLIP-seq
MIRT1426003	hsa-miR-885-3p	CLIP-seq
MIRT1426004	hsa-miR-98	CLIP-seq
MIRT2127660	hsa-miR-1915	CLIP-seq
MIRT2127661	hsa-miR-371-5p	CLIP-seq
MIRT2127662	hsa-miR-371b-5p	CLIP-seq
MIRT2127663	hsa-miR-4685-5p	CLIP-seq
MIRT2127664	hsa-miR-4726-3p	CLIP-seq
MIRT2127665	hsa-miR-513c	CLIP-seq
MIRT2127666	hsa-miR-514b-5p	CLIP-seq
MIRT2349363	hsa-miR-1225-3p	CLIP-seq
MIRT2349364	hsa-miR-1233	CLIP-seq
MIRT2349365	hsa-miR-1255a	CLIP-seq
MIRT2349366	hsa-miR-1255b	CLIP-seq
MIRT2349367	hsa-miR-1257	CLIP-seq
MIRT2349368	hsa-miR-143	CLIP-seq
MIRT1425937	hsa-miR-19a	CLIP-seq
MIRT1425938	hsa-miR-19b	CLIP-seq
MIRT1425961	hsa-miR-214	CLIP-seq
MIRT2349369	hsa-miR-216a	CLIP-seq
MIRT2349370	hsa-miR-3065-5p	CLIP-seq
MIRT2349371	hsa-miR-3120-3p	CLIP-seq
MIRT2349372	hsa-miR-3158-3p	CLIP-seq
MIRT1425966	hsa-miR-338-3p	CLIP-seq
MIRT2349373	hsa-miR-342-3p	CLIP-seq
MIRT2349374	hsa-miR-3607-5p	CLIP-seq
MIRT1425968	hsa-miR-3619-5p	CLIP-seq
MIRT2349375	hsa-miR-3662	CLIP-seq
MIRT2349376	hsa-miR-3663-3p	CLIP-seq
MIRT2349377	hsa-miR-3925-3p	CLIP-seq
MIRT2349378	hsa-miR-4428	CLIP-seq
MIRT2349379	hsa-miR-4433	CLIP-seq
MIRT2349380	hsa-miR-4459	CLIP-seq
MIRT2349381	hsa-miR-4499	CLIP-seq
MIRT2349382	hsa-miR-4640-5p	CLIP-seq
MIRT2349383	hsa-miR-4653-3p	CLIP-seq
MIRT1425982	hsa-miR-4690-5p	CLIP-seq
MIRT2349384	hsa-miR-4694-3p	CLIP-seq
MIRT2349385	hsa-miR-4698	CLIP-seq
MIRT2349386	hsa-miR-4726-5p	CLIP-seq
MIRT2349387	hsa-miR-4764-5p	CLIP-seq
MIRT2349388	hsa-miR-4768-3p	CLIP-seq
MIRT2349389	hsa-miR-4770	CLIP-seq
MIRT2349390	hsa-miR-4786-5p	CLIP-seq
MIRT2349391	hsa-miR-4790-3p	CLIP-seq
MIRT2349392	hsa-miR-4792	CLIP-seq
MIRT2349393	hsa-miR-4793-5p	CLIP-seq
MIRT2349394	hsa-miR-499a-5p	CLIP-seq
MIRT2349395	hsa-miR-508-5p	CLIP-seq
MIRT1425996	hsa-miR-548p	CLIP-seq
MIRT2349396	hsa-miR-617	CLIP-seq
MIRT1426002	hsa-miR-761	CLIP-seq
MIRT2349397	hsa-miR-766	CLIP-seq
MIRT2349398	hsa-miR-769-5p	CLIP-seq
MIRT2642690	hsa-miR-1202	CLIP-seq
MIRT2349363	hsa-miR-1225-3p	CLIP-seq
MIRT2349364	hsa-miR-1233	CLIP-seq
MIRT2349365	hsa-miR-1255a	CLIP-seq
MIRT2349366	hsa-miR-1255b	CLIP-seq
MIRT2642691	hsa-miR-1291	CLIP-seq
MIRT2642692	hsa-miR-1293	CLIP-seq
MIRT2642693	hsa-miR-1299	CLIP-seq
MIRT2642694	hsa-miR-139-5p	CLIP-seq
MIRT2642695	hsa-miR-146b-3p	CLIP-seq
MIRT2642696	hsa-miR-149	CLIP-seq
MIRT2642697	hsa-miR-1825	CLIP-seq
MIRT2349369	hsa-miR-216a	CLIP-seq
MIRT2642698	hsa-miR-3064-5p	CLIP-seq
MIRT2349371	hsa-miR-3120-3p	CLIP-seq
MIRT2642699	hsa-miR-3126-3p	CLIP-seq
MIRT2642700	hsa-miR-3173-5p	CLIP-seq
MIRT2642701	hsa-miR-3194-5p	CLIP-seq
MIRT2642702	hsa-miR-335	CLIP-seq
MIRT2349373	hsa-miR-342-3p	CLIP-seq
MIRT2642703	hsa-miR-361-3p	CLIP-seq
MIRT2642704	hsa-miR-3922-5p	CLIP-seq
MIRT2349377	hsa-miR-3925-3p	CLIP-seq
MIRT2642705	hsa-miR-3972	CLIP-seq
MIRT2642706	hsa-miR-4292	CLIP-seq
MIRT2642707	hsa-miR-4483	CLIP-seq
MIRT1425979	hsa-miR-450b-5p	CLIP-seq
MIRT2642708	hsa-miR-4521	CLIP-seq
MIRT2642709	hsa-miR-4641	CLIP-seq
MIRT2349383	hsa-miR-4653-3p	CLIP-seq
MIRT2642710	hsa-miR-4659a-5p	CLIP-seq
MIRT2642711	hsa-miR-4659b-5p	CLIP-seq
MIRT2642712	hsa-miR-4696	CLIP-seq
MIRT2642713	hsa-miR-4699-5p	CLIP-seq
MIRT2642714	hsa-miR-4715-5p	CLIP-seq
MIRT2642715	hsa-miR-4722-3p	CLIP-seq
MIRT2642716	hsa-miR-4749-3p	CLIP-seq
MIRT2642717	hsa-miR-4769-3p	CLIP-seq
MIRT2349392	hsa-miR-4792	CLIP-seq
MIRT2642718	hsa-miR-4794	CLIP-seq
MIRT2642719	hsa-miR-4802-3p	CLIP-seq
MIRT2642720	hsa-miR-498	CLIP-seq
MIRT2349395	hsa-miR-508-5p	CLIP-seq
MIRT2642721	hsa-miR-571	CLIP-seq
MIRT2349396	hsa-miR-617	CLIP-seq
MIRT2642722	hsa-miR-663b	CLIP-seq
MIRT2642723	hsa-miR-668	CLIP-seq
MIRT2642724	hsa-miR-760	CLIP-seq
MIRT2642725	hsa-miR-874	CLIP-seq
MIRT2642726	hsa-miR-875-3p	CLIP-seq
MIRT1426003	hsa-miR-885-3p	CLIP-seq
MIRT2642727	hsa-miR-944	CLIP-seq
MIRT2642690	hsa-miR-1202	CLIP-seq
MIRT2349363	hsa-miR-1225-3p	CLIP-seq
MIRT2349364	hsa-miR-1233	CLIP-seq
MIRT2349365	hsa-miR-1255a	CLIP-seq
MIRT2349366	hsa-miR-1255b	CLIP-seq
MIRT2693215	hsa-miR-1286	CLIP-seq
MIRT2642691	hsa-miR-1291	CLIP-seq
MIRT2642692	hsa-miR-1293	CLIP-seq
MIRT2642694	hsa-miR-139-5p	CLIP-seq
MIRT2642695	hsa-miR-146b-3p	CLIP-seq
MIRT2642696	hsa-miR-149	CLIP-seq
MIRT2642697	hsa-miR-1825	CLIP-seq
MIRT2349369	hsa-miR-216a	CLIP-seq
MIRT2642698	hsa-miR-3064-5p	CLIP-seq
MIRT2349371	hsa-miR-3120-3p	CLIP-seq
MIRT1425940	hsa-miR-3126-5p	CLIP-seq
MIRT2642700	hsa-miR-3173-5p	CLIP-seq
MIRT2642701	hsa-miR-3194-5p	CLIP-seq
MIRT2349373	hsa-miR-342-3p	CLIP-seq
MIRT2693216	hsa-miR-34b	CLIP-seq
MIRT2642703	hsa-miR-361-3p	CLIP-seq
MIRT2642704	hsa-miR-3922-5p	CLIP-seq
MIRT2349377	hsa-miR-3925-3p	CLIP-seq
MIRT2642705	hsa-miR-3972	CLIP-seq
MIRT2642706	hsa-miR-4292	CLIP-seq
MIRT2642707	hsa-miR-4483	CLIP-seq
MIRT2642708	hsa-miR-4521	CLIP-seq
MIRT2349383	hsa-miR-4653-3p	CLIP-seq
MIRT2642710	hsa-miR-4659a-5p	CLIP-seq
MIRT2642711	hsa-miR-4659b-5p	CLIP-seq
MIRT2642713	hsa-miR-4699-5p	CLIP-seq
MIRT2642714	hsa-miR-4715-5p	CLIP-seq
MIRT2642715	hsa-miR-4722-3p	CLIP-seq
MIRT2642716	hsa-miR-4749-3p	CLIP-seq
MIRT2642717	hsa-miR-4769-3p	CLIP-seq
MIRT2349392	hsa-miR-4792	CLIP-seq
MIRT2642718	hsa-miR-4794	CLIP-seq
MIRT2642719	hsa-miR-4802-3p	CLIP-seq
MIRT2693217	hsa-miR-488	CLIP-seq
MIRT2642720	hsa-miR-498	CLIP-seq
MIRT2349395	hsa-miR-508-5p	CLIP-seq
MIRT2642721	hsa-miR-571	CLIP-seq
MIRT2349396	hsa-miR-617	CLIP-seq
MIRT2642722	hsa-miR-663b	CLIP-seq
MIRT2642723	hsa-miR-668	CLIP-seq
MIRT2642724	hsa-miR-760	CLIP-seq
MIRT2642725	hsa-miR-874	CLIP-seq
MIRT1426003	hsa-miR-885-3p	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004137	Function	Deoxycytidine kinase activity	IDA	9989599, 11687801
GO:0004137	Function	Deoxycytidine kinase activity	IEA
GO:0004797	Function	Thymidine kinase activity	IDA	9989599, 11687801
GO:0004797	Function	Thymidine kinase activity	IEA
GO:0004797	Function	Thymidine kinase activity	TAS	9079672
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	9989599
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	TAS	9079672
GO:0009157	Process	Deoxyribonucleoside monophosphate biosynthetic process	IEA
GO:0009165	Process	Nucleotide biosynthetic process	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019136	Function	Deoxynucleoside kinase activity	IBA
GO:0019136	Function	Deoxynucleoside kinase activity	IEA
GO:0019206	Function	Nucleoside kinase activity	TAS
GO:0043097	Process	Pyrimidine nucleoside salvage	TAS
GO:0046092	Process	Deoxycytidine metabolic process	IEA
GO:0046104	Process	Thymidine metabolic process	IEA
GO:0071897	Process	DNA biosynthetic process	IEA
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA

MIM	HGNC	e!Ensembl
188250	11831	ENSG00000166548

O00142

Protein name

Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2'-deoxyuridine kinase TK2) (EC 2.7.1.74) (Deoxycytidine kinase TK2) (EC 2.7.1.-) (Mt-TK)

Protein function

Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix (PubMed:11687801, PubMed:9989599). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01712	dNK	53 → 265	Deoxynucleoside kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in liver, pancreas, muscle, and brain. {ECO:0000269|PubMed:9079672}.

Sequence

MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIA
SGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDR
HTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIV
YLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHH
MERMLELFEQNRDRILTPENRKHCP

Sequence length

265

Interactions

View interactions

	KEGG		Reactome
	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways Nucleotide metabolism		Pyrimidine salvage

306

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial disease	Likely pathogenic; Pathogenic	rs1964523180, rs768548319, rs970983506, rs138479499, rs886039669, rs886041321, rs137854429, rs137854430, rs137854431, rs137854432, rs1567533723, rs2507184447, rs1964662122, rs281865500, rs281865486 View all (21 more)	RCV005361660 RCV005361724 RCV005356252 RCV005361816 RCV005355568 RCV005355584 RCV005357118 RCV005357119 RCV005357120 RCV005357121 RCV005356472 RCV005356474 RCV005356524 RCV005357228 RCV005357229 RCV005358312 RCV005356394 RCV005357230 RCV005357231 RCV005357232 RCV005358325 RCV005358334 RCV005358336 RCV005358335 RCV005357235 RCV005357236 RCV005357237 RCV005357238 RCV005357239 RCV005357240 RCV005357241 RCV005357242 RCV005356471 RCV005357243 RCV005357244 RCV005360000 RCV005359998
Mitochondrial DNA depletion syndrome	Likely pathogenic; Pathogenic	rs2144497920, rs138479499, rs137854429, rs137854431, rs281865499, rs138439950, rs281865487, rs281865507, rs281865493, rs281865492, rs281865494, rs137886900, rs281865501, rs1454450104	RCV002222951 RCV002266060 RCV004526595 RCV003993743 RCV003492321 RCV004782026 RCV006262345 RCV003155045 RCV005055529 RCV005055530 RCV000615451 RCV003230374 RCV002265574 RCV006266665
Mitochondrial DNA depletion syndrome 2, myopathic form	Likely pathogenic; Pathogenic	rs138439950	RCV004798750
Mitochondrial DNA depletion syndrome, myopathic form	Likely pathogenic; Pathogenic	rs1964523180, rs768548319, rs973152588, rs2144339570, rs773566302, rs138479499, rs886039669, rs1965024310, rs137854429, rs137854430, rs137854431, rs137854432, rs281865500, rs281865486, rs138439950 View all (10 more)	RCV005005959 RCV003388613 RCV005008381 RCV002246774 RCV002246775 RCV005006210 RCV001089979 RCV003337955 RCV000013545 RCV000013546 RCV000013547 RCV000013548 RCV000032232 RCV002496489 RCV000762978 RCV005007920 RCV005016316 RCV000032247 RCV000762977 RCV000032251 RCV000032253 RCV000032254 RCV000032592 RCV001249200 RCV001249197
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	Likely pathogenic; Pathogenic	rs1964523180, rs768548319, rs973152588, rs138479499, rs886039669, rs137854431, rs281865486, rs138439950, rs281865487, rs281865507, rs281865494, rs137886900, rs281865495, rs1454450104	RCV005005959 RCV004554871 RCV005008381 RCV005006210 RCV005016659 RCV003883499 RCV002496489 RCV000762978 RCV005007920 RCV005016316 RCV000762977 RCV000239457 RCV000239458 RCV005014304
TK2-related disorder	Pathogenic; Likely pathogenic	rs137854431, rs281865494	RCV004757106 RCV003904881

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of the musculature	Conflicting classifications of pathogenicity	rs770318536	RCV001814354
Clear cell carcinoma of kidney	Uncertain significance	rs761001323	RCV005932076
Inborn mitochondrial myopathy	Conflicting classifications of pathogenicity	rs1168827071	RCV002223138
Melanoma	Likely benign	rs2507165527	RCV005931555
Myopathy	Conflicting classifications of pathogenicity	rs281865489	RCV002513294
Ovarian serous cystadenocarcinoma	Likely benign	rs117991260	RCV005904287
Sarcoma	Likely benign	rs117991260	RCV005904286
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs539947146	RCV005928336
Uterine corpus endometrial carcinoma	Likely benign	rs114332146, rs117991260	RCV005917524 RCV005904288

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenylate Kinase Deficiency Hemolytic Anemia Due To	Associate	32904881
Asthma	Associate	39217320
Cardiomyopathy Dilated	Associate	23695887
HELLP Syndrome	Associate	31125140
Hypertrophy Left Ventricular	Associate	37715114
Inflammation	Associate	24484525
Lung Neoplasms	Associate	32638267
Mitochondrial Diseases	Associate	12493767, 23468942, 24198295, 32904881
Mitochondrial Diseases	Stimulate	26087398
Mitochondrial DNA Depletion Syndrome Myopathic Form	Associate	12493767
Mitochondrial Encephalomyopathies	Associate	24484525
Mitochondrial Myopathies	Associate	31060578, 33246973, 35286480, 37715114
Muscle Weakness	Associate	31060578
Muscular Diseases	Associate	12493767, 23303857, 24484525, 29602790, 31060578, 31125140, 32904881
Muscular Dystrophies	Associate	35286480
Myelodysplastic Syndromes	Associate	23303857, 29052564
Myopathy with Abnormal Lipid Metabolism	Associate	40098049
Neoplasms	Associate	24484525, 26087398, 32638267, 9079672
Parkinson Disease	Associate	33276480
Rectal Neoplasms	Associate	24455740
Respiratory Insufficiency	Associate	24198295, 33246973
Spinocerebellar Ataxia 31	Associate	19878914, 30634945
Visceral myopathy familial external ophthalmoplegia	Associate	18021809, 19154348, 21382338, 23303857, 24484525, 31060578, 32904881, 36232299, 40098049

TK2 (thymidine kinase 2)