TK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 320117	NM_004614.5(TK2):c.*3786C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 320118	NM_004614.5(TK2):c.*3763G>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320119	NM_004614.5(TK2):c.*3438G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887357	NM_004614.5(TK2):c.*3368G>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887358	NM_004614.5(TK2):c.*3331C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887359	NM_004614.5(TK2):c.*3285G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887360	NM_004614.5(TK2):c.*3255A>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887361	NM_004614.5(TK2):c.*3218A>C	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form +1 more	GUncertain significance
Select item 320120	NM_004614.5(TK2):c.*3193G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887545	NM_004614.5(TK2):c.*2985G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887546	NM_004614.5(TK2):c.*2944G>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320121	NM_004614.5(TK2):c.*2914C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 320122	NM_004614.5(TK2):c.*2902C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320123	NM_004614.5(TK2):c.*2773C>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887547	NM_004614.5(TK2):c.*2637G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887548	NM_004614.5(TK2):c.*2540G>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GLikely benign
Select item 320124	NM_004614.5(TK2):c.*2450A>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GBenign
Select item 884396	NM_004614.5(TK2):c.*2433A>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320125	NM_004614.5(TK2):c.*2419C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form +1 more	GBenign
Select item 884397	NM_004614.5(TK2):c.*2375G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320126	NM_004614.5(TK2):c.*2298C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GLikely benign
Select item 320127	NM_004614.5(TK2):c.*2221T>C	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 884398	NM_004614.5(TK2):c.*2146G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320128	NM_004614.5(TK2):c.*2122G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 884399	NM_004614.5(TK2):c.*2121C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 884400	NM_004614.5(TK2):c.*1986G>C	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 886420	NM_004614.5(TK2):c.*1959G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GBenign
Select item 320130	NM_004614.5(TK2):c.1758_1759insTT	TK2	Insertion (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 320129	NM_004614.5(TK2):c.1758_1759insT	TK2	Insertion (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 320132	NM_004614.5(TK2):c.1756_1757dup	TK2	Duplication (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 320131	NM_004614.5(TK2):c.*1758del	TK2	Deletion (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 320134	NM_004614.5(TK2):c.*1740T>C	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GLikely benign
Select item 320133	NM_004614.5(TK2):c.1739_1740insC	TK2	Insertion (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 320135	NM_004614.5(TK2):c.*1738C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320136	NM_004614.5(TK2):c.*1682T>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320137	NM_004614.5(TK2):c.*1681A>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 886421	NM_004614.5(TK2):c.*1671G>C	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320138	NM_004614.5(TK2):c.*1618C>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 886422	NM_004614.5(TK2):c.*1597G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320139	NM_004614.5(TK2):c.*1591dup	TK2	Duplication (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 320140	NM_004614.5(TK2):c.*1472A>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887429	NM_004614.5(TK2):c.*1463T>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320141	NM_004614.5(TK2):c.*1455C>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320142	NM_004614.5(TK2):c.*1443C>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320143	NM_004614.5(TK2):c.*1403A>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320144	NM_004614.5(TK2):c.*1333G>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887430	NM_004614.5(TK2):c.*1292G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887431	NM_004614.5(TK2):c.*1212C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320145	NM_004614.5(TK2):c.*1044C>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887612	NM_004614.5(TK2):c.*1029T>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320146	NM_004614.5(TK2):c.*921G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320147	NM_004614.5(TK2):c.*833T>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320148	NM_004614.5(TK2):c.*809C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 887613	NM_004614.5(TK2):c.*773C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320149	NM_004614.5(TK2):c.*765T>C	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form +1 more	GBenign
Select item 887614	NM_004614.5(TK2):c.*760T>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GLikely benign
Select item 884463	NM_004614.5(TK2):c.*729A>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320150	NM_004614.5(TK2):c.*688C>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320151	NM_004614.5(TK2):c.*615A>C	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320152	NM_004614.5(TK2):c.*595G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320153	NM_004614.5(TK2):c.*485C>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320154	NM_004614.5(TK2):c.*451G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320155	NM_004614.5(TK2):c.*444G>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320156	NM_004614.5(TK2):c.*342C>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 885395	NM_004614.5(TK2):c.*327G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 885396	NM_004614.5(TK2):c.*223G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 885397	NM_004614.5(TK2):c.*200G>T	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 885398	NM_004614.5(TK2):c.*15A>G	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 2881761	NM_004614.5(TK2):c.795A>G (p.Pro265=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1462977	NM_004614.5(TK2):c.793C>T (p.Pro265Ser)	TK2 (P240S +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1566656	NM_004614.5(TK2):c.792C>T (p.Cys264=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1477135	NM_004614.5(TK2):c.782G>T (p.Arg261Leu)	TK2 (R243L +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1400277	NM_004614.5(TK2):c.782G>A (p.Arg261Gln)	TK2 (R212Q +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2793198	NM_004614.5(TK2):c.780T>C (p.Asn260=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2829001	NM_004614.5(TK2):c.766T>C (p.Leu256=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2006549	NM_004614.5(TK2):c.764T>A (p.Ile255Lys)	TK2 (I206K +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 885399	NM_004614.5(TK2):c.763A>G (p.Ile255Val)	TK2 (I158V +5 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome, myopathic form +1 more	GUncertain significance
Select item 38997	NM_004614.5(TK2):c.760C>T (p.Arg254Ter)	TK2 (R254* +5 more)	Single nucleotide variant (nonsense +2 more)	Mitochondrial DNA depletion syndrome, myopathic form +1 more	GConflicting classifications of pathogenicity
Select item 2551891	NM_004614.5(TK2):c.755G>A (p.Arg252Gln)	TK2 (R203Q +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 215264	NM_004614.5(TK2):c.754C>T (p.Arg252Trp)	TK2 (R252W +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2839755	NM_004614.5(TK2):c.743_744del (p.Leu247_Phe248insTer)	TK2	Deletion (nonsense +2 more)	not provided	GPathogenic
Select item 702829	NM_004614.5(TK2):c.744T>C (p.Phe248=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1423824	NM_004614.5(TK2):c.737A>T (p.Glu246Val)	TK2 (E221V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 384234	NM_004614.5(TK2):c.727A>C (p.Arg243=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2716150	NM_004614.5(TK2):c.713_723del (p.Asp238fs)	TK2 (D141fs +5 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2866346	NM_004614.5(TK2):c.721A>G (p.Met241Val)	TK2 (M144V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1426230	NM_004614.5(TK2):c.715C>T (p.His239Tyr)	TK2 (H142Y +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1538717	NM_004614.5(TK2):c.708G>A (p.Glu236=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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