ClinVar for MedGen (Select 461100) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17095441.	NM_004614.5(TK2):c.124+3A>G GRCh37: Chr16:66583838 GRCh38: Chr16:66549935	TK2	L85S	Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 16862622.	NM_004614.5(TK2):c.414C>A (p.Ser138Arg) GRCh37: Chr16:66562932 GRCh38: Chr16:66529029	TK2	S107R, S113R, S120R, S138R, S41R, S89R	Mitochondrial DNA depletion syndrome, myopathic form	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16862613.	NM_004614.5(TK2):c.692C>T (p.Pro231Leu) GRCh37: Chr16:66547641 GRCh38: Chr16:66513738	TK2	P134L, P182L, P200L, P206L, P213L, P231L	Mitochondrial DNA depletion syndrome, myopathic form	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 9729144.	NM_004614.5(TK2):c.328C>T (p.Gln110Ter) GRCh37: Chr16:66565330 GRCh38: Chr16:66531427	TK2	Q110, Q13, Q85, Q61, Q79, Q92	Mitochondrial DNA depletion syndrome, myopathic form	Pathogenic (Dec 1, 2019)	criteria provided, single submitter
Select item 9729135.	NM_004614.5(TK2):c.659T>C (p.Leu220Pro) GRCh37: Chr16:66547674 GRCh38: Chr16:66513771	TK2	L123P, L189P, L202P, S133P, L171P, L195P, L220P	not provided, Mitochondrial DNA depletion syndrome, myopathic form	Likely pathogenic (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9729126.	NM_004614.5(TK2):c.144_145del (p.Lys50fs) GRCh37: Chr16:66582892-66582893 GRCh38: Chr16:66548989-66548990	TK2	K19fs, K50fs	not provided, Mitochondrial DNA depletion syndrome, myopathic form	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8876757.	NM_004614.5(TK2):c.125-13C>T GRCh37: Chr16:66582925 GRCh38: Chr16:66549022	TK2		not provided, Mitochondrial DNA depletion syndrome, myopathic form	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 8876748.	NM_004614.5(TK2):c.125A>C (p.Asp42Ala) GRCh37: Chr16:66582912 GRCh38: Chr16:66549009	TK2	D11A, D42A	Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8876149.	NM_004614.5(TK2):c.*760T>G GRCh37: Chr16:66545111 GRCh38: Chr16:66511208	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88761310.	NM_004614.5(TK2):c.*773C>T GRCh37: Chr16:66545098 GRCh38: Chr16:66511195	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88761211.	NM_004614.5(TK2):c.*1029T>A GRCh37: Chr16:66544842 GRCh38: Chr16:66510939	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88754812.	NM_004614.5(TK2):c.*2540G>T GRCh37: Chr16:66543331 GRCh38: Chr16:66509428	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88754713.	NM_004614.5(TK2):c.*2637G>A GRCh37: Chr16:66543234 GRCh38: Chr16:66509331	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88754614.	NM_004614.5(TK2):c.*2944G>T GRCh37: Chr16:66542927 GRCh38: Chr16:66509024	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88754515.	NM_004614.5(TK2):c.*2985G>A GRCh37: Chr16:66542886 GRCh38: Chr16:66508983	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88748716.	NM_004614.5(TK2):c.300C>T (p.His100=) GRCh37: Chr16:66565358 GRCh38: Chr16:66531455	TK2		not provided, Mitochondrial DNA depletion syndrome, myopathic form	Conflicting interpretations of pathogenicity (Jul 30, 2022)	criteria provided, conflicting interpretations
Select item 88748617.	NM_004614.5(TK2):c.414C>T (p.Ser138=) GRCh37: Chr16:66562932 GRCh38: Chr16:66529029	TK2		not provided, Mitochondrial DNA depletion syndrome, myopathic form	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 88748518.	NM_004614.5(TK2):c.519C>T (p.Asp173=) GRCh37: Chr16:66551711 GRCh38: Chr16:66517808	TK2		not provided, Mitochondrial DNA depletion syndrome, myopathic form	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 88748319.	NM_004614.5(TK2):c.620A>T (p.Glu207Val) GRCh37: Chr16:66547713 GRCh38: Chr16:66513810	TK2	E158V, E182V, E176V, E189V, E207V, N120Y, E110V	not provided, Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Dec 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88743120.	NM_004614.5(TK2):c.*1212C>T GRCh37: Chr16:66544659 GRCh38: Chr16:66510756	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88743021.	NM_004614.5(TK2):c.*1292G>A GRCh37: Chr16:66544579 GRCh38: Chr16:66510676	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88742922.	NM_004614.5(TK2):c.*1463T>G GRCh37: Chr16:66544408 GRCh38: Chr16:66510505	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88736123.	NM_004614.5(TK2):c.*3218A>C GRCh37: Chr16:66542653 GRCh38: Chr16:66508750	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88736024.	NM_004614.5(TK2):c.*3255A>G GRCh37: Chr16:66542616 GRCh38: Chr16:66508713	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88735925.	NM_004614.5(TK2):c.*3285G>A GRCh37: Chr16:66542586 GRCh38: Chr16:66508683	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88735826.	NM_004614.5(TK2):c.*3331C>T GRCh37: Chr16:66542540 GRCh38: Chr16:66508637	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88735727.	NM_004614.5(TK2):c.*3368G>T GRCh37: Chr16:66542503 GRCh38: Chr16:66508600	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88642228.	NM_004614.5(TK2):c.*1597G>A GRCh37: Chr16:66544274 GRCh38: Chr16:66510371	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88642129.	NM_004614.5(TK2):c.*1671G>C GRCh37: Chr16:66544200 GRCh38: Chr16:66510297	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88642030.	NM_004614.5(TK2):c.*1959G>A GRCh37: Chr16:66543912 GRCh38: Chr16:66510009	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88540031.	NM_004614.5(TK2):c.699+13C>T GRCh37: Chr16:66547621 GRCh38: Chr16:66513718	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88539932.	NM_004614.5(TK2):c.763A>G (p.Ile255Val) GRCh37: Chr16:66545906 GRCh38: Chr16:66512003	TK2	I158V, I237V, I206V, I224V, I230V, I255V	not provided, Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88539833.	NM_004614.5(TK2):c.*15A>G GRCh37: Chr16:66545856 GRCh38: Chr16:66511953	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88539734.	NM_004614.5(TK2):c.*200G>T GRCh37: Chr16:66545671 GRCh38: Chr16:66511768	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88539635.	NM_004614.5(TK2):c.*223G>A GRCh37: Chr16:66545648 GRCh38: Chr16:66511745	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88539536.	NM_004614.5(TK2):c.*327G>A GRCh37: Chr16:66545544 GRCh38: Chr16:66511641	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88452537.	NM_004614.4(TK2):c.-70T>A GRCh37: Chr16:66584034 GRCh38: Chr16:66550131	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88452438.	NM_004614.5(TK2):c.-43G>C GRCh37: Chr16:66584007 GRCh38: Chr16:66550104	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88446339.	NM_004614.5(TK2):c.*729A>G GRCh37: Chr16:66545142 GRCh38: Chr16:66511239	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88440040.	NM_004614.5(TK2):c.*1986G>C GRCh37: Chr16:66543885 GRCh38: Chr16:66509982	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88439941.	NM_004614.5(TK2):c.*2121C>T GRCh37: Chr16:66543750 GRCh38: Chr16:66509847	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88439842.	NM_004614.5(TK2):c.*2146G>A GRCh37: Chr16:66543725 GRCh38: Chr16:66509822	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88439743.	NM_004614.5(TK2):c.*2375G>A GRCh37: Chr16:66543496 GRCh38: Chr16:66509593	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88439644.	NM_004614.5(TK2):c.*2433A>G GRCh37: Chr16:66543438 GRCh38: Chr16:66509535	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 69444345.	NM_004614.5(TK2):c.169G>A (p.Gly57Ser) GRCh37: Chr16:66575844 GRCh38: Chr16:66541941	TK2	G26S, G57S, G8S	Mitochondrial DNA depletion syndrome, myopathic form	Likely pathogenic (Jul 17, 2019)	criteria provided, single submitter
Select item 69444146.	NM_004614.5(TK2):c.655T>C (p.Trp219Arg) GRCh37: Chr16:66547678 GRCh38: Chr16:66513775	TK2	W122R, W170R, W188R, W194R, W201R, W219R	Mitochondrial DNA depletion syndrome, myopathic form	Likely pathogenic (Jul 17, 2019)	criteria provided, single submitter
Select item 69444047.	NM_004614.5(TK2):c.338T>A (p.Val113Glu) GRCh37: Chr16:66565320 GRCh38: Chr16:66531417	TK2	V113E, V16E, V64E, V82E, V88E, V95E	Mitochondrial DNA depletion syndrome, myopathic form	Likely pathogenic (Jul 17, 2019)	criteria provided, single submitter
Select item 69443948.	NM_004614.5(TK2):c.310C>T (p.Arg104Cys) GRCh37: Chr16:66565348 GRCh38: Chr16:66531445	TK2	R104C, R55C, R73C, R79C, R7C, R86C	not provided, Mitochondrial DNA depletion syndrome, myopathic form	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 67367849.	NM_004614.5(TK2):c.619-53A>G GRCh37: Chr16:66547767 GRCh38: Chr16:66513864	TK2		not provided, Mitochondrial DNA depletion syndrome, myopathic form, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45083550.	NM_004614.5(TK2):c.497A>T (p.Asp166Val) GRCh37: Chr16:66551733 GRCh38: Chr16:66517830	TK2	D166V, D135V, D117V, D141V, D69V, D148V	not provided, Mitochondrial DNA depletion syndrome, myopathic form	Conflicting interpretations of pathogenicity (Dec 1, 2019)	criteria provided, conflicting interpretations
Select item 32016151.	NM_004614.4(TK2):c.-216G>A GRCh37: Chr16:66584180 GRCh38: Chr16:66550277	TK2	A3T, A199V	Mitochondrial DNA depletion syndrome, myopathic form	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32016052.	NM_004614.5(TK2):c.-48G>A GRCh37: Chr16:66584012 GRCh38: Chr16:66550109	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32015953.	NM_004614.5(TK2):c.124+6G>C GRCh37: Chr16:66583835 GRCh38: Chr16:66549932	TK2		not specified, Mitochondrial DNA depletion syndrome, myopathic form, not provided	Uncertain significance (Feb 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32015854.	NM_004614.5(TK2):c.288C>T (p.Gly96=) GRCh37: Chr16:66565370 GRCh38: Chr16:66531467	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32015755.	NM_004614.5(TK2):c.450-13A>G GRCh37: Chr16:66551793 GRCh38: Chr16:66517890	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32015656.	NM_004614.5(TK2):c.*342C>A GRCh37: Chr16:66545529 GRCh38: Chr16:66511626	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32015557.	NM_004614.5(TK2):c.*444G>T GRCh37: Chr16:66545427 GRCh38: Chr16:66511524	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32015458.	NM_004614.5(TK2):c.*451G>A GRCh37: Chr16:66545420 GRCh38: Chr16:66511517	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32015359.	NM_004614.5(TK2):c.*485C>G GRCh37: Chr16:66545386 GRCh38: Chr16:66511483	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32015260.	NM_004614.5(TK2):c.*595G>A GRCh37: Chr16:66545276 GRCh38: Chr16:66511373	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32015161.	NM_004614.5(TK2):c.*615A>C GRCh37: Chr16:66545256 GRCh38: Chr16:66511353	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32015062.	NM_004614.5(TK2):c.*688C>T GRCh37: Chr16:66545183 GRCh38: Chr16:66511280	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32014963.	NM_004614.5(TK2):c.*765T>C GRCh37: Chr16:66545106 GRCh38: Chr16:66511203	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32014864.	NM_004614.5(TK2):c.*809C>T GRCh37: Chr16:66545062 GRCh38: Chr16:66511159	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32014765.	NM_004614.5(TK2):c.*833T>G GRCh37: Chr16:66545038 GRCh38: Chr16:66511135	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32014666.	NM_004614.5(TK2):c.*921G>A GRCh37: Chr16:66544950 GRCh38: Chr16:66511047	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32014567.	NM_004614.5(TK2):c.*1044C>A GRCh37: Chr16:66544827 GRCh38: Chr16:66510924	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32014468.	NM_004614.5(TK2):c.*1333G>T GRCh37: Chr16:66544538 GRCh38: Chr16:66510635	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32014369.	NM_004614.5(TK2):c.*1403A>G GRCh37: Chr16:66544468 GRCh38: Chr16:66510565	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32014270.	NM_004614.5(TK2):c.*1443C>A GRCh37: Chr16:66544428 GRCh38: Chr16:66510525	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32014171.	NM_004614.5(TK2):c.*1455C>G GRCh37: Chr16:66544416 GRCh38: Chr16:66510513	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32014072.	NM_004614.5(TK2):c.*1472A>T GRCh37: Chr16:66544399 GRCh38: Chr16:66510496	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32013873.	NM_004614.5(TK2):c.*1618C>A GRCh37: Chr16:66544253 GRCh38: Chr16:66510350	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32013774.	NM_004614.5(TK2):c.*1681A>G GRCh37: Chr16:66544190 GRCh38: Chr16:66510287	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32013675.	NM_004614.5(TK2):c.*1682T>G GRCh37: Chr16:66544189 GRCh38: Chr16:66510286	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32013576.	NM_004614.5(TK2):c.*1738C>T GRCh37: Chr16:66544133 GRCh38: Chr16:66510230	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32013477.	NM_004614.5(TK2):c.*1740T>C GRCh37: Chr16:66544131 GRCh38: Chr16:66510228	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32012778.	NM_004614.5(TK2):c.*2221T>C GRCh37: Chr16:66543650 GRCh38: Chr16:66509747	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32012679.	NM_004614.5(TK2):c.*2298C>T GRCh37: Chr16:66543573 GRCh38: Chr16:66509670	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32012580.	NM_004614.5(TK2):c.*2419C>T GRCh37: Chr16:66543452 GRCh38: Chr16:66509549	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32012481.	NM_004614.5(TK2):c.*2450A>G GRCh37: Chr16:66543421 GRCh38: Chr16:66509518	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32012382.	NM_004614.5(TK2):c.*2773C>G GRCh37: Chr16:66543098 GRCh38: Chr16:66509195	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32012283.	NM_004614.5(TK2):c.*2902C>T GRCh37: Chr16:66542969 GRCh38: Chr16:66509066	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32012184.	NM_004614.5(TK2):c.*2914C>T GRCh37: Chr16:66542957 GRCh38: Chr16:66509054	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32012085.	NM_004614.5(TK2):c.*3193G>A GRCh37: Chr16:66542678 GRCh38: Chr16:66508775	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32011986.	NM_004614.5(TK2):c.*3438G>A GRCh37: Chr16:66542433 GRCh38: Chr16:66508530	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32011887.	NM_004614.5(TK2):c.*3763G>T GRCh37: Chr16:66542108 GRCh38: Chr16:66508205	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32011788.	NM_004614.5(TK2):c.*3786C>T GRCh37: Chr16:66542085 GRCh38: Chr16:66508182	TK2		Mitochondrial DNA depletion syndrome, myopathic form	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 26561489.	NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter) GRCh37: Chr16:66565285-66565286 GRCh38: Chr16:66531382-66531383	TK2	Q28, Q125, Q100, Q94, Q107, Q76	not provided, Mitochondrial DNA depletion syndrome, myopathic form	Pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22549190.	NM_004614.5(TK2):c.699+6_699+9del GRCh37: Chr16:66547625-66547628 GRCh38: Chr16:66513722-66513725	TK2		not provided, Mitochondrial DNA depletion syndrome, myopathic form	Conflicting interpretations of pathogenicity (Sep 10, 2022)	criteria provided, conflicting interpretations
Select item 21526891.	NM_004614.5(TK2):c.680C>T (p.Pro227Leu) GRCh37: Chr16:66547653 GRCh38: Chr16:66513750	TK2	P227L, P202L, P196L, P209L, P130L, P140S, P178L	Inborn genetic diseases, not provided, Mitochondrial DNA depletion syndrome, myopathic form	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 21526292.	NM_004614.5(TK2):c.122C>A (p.Pro41His) GRCh37: Chr16:66583843 GRCh38: Chr16:66549940	TK2	P41H	Mitochondrial DNA depletion syndrome, myopathic form, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 21526193.	NM_004614.5(TK2):c.94C>T (p.Arg32Trp) GRCh37: Chr16:66583871 GRCh38: Chr16:66549968	TK2	R32W	not specified, not provided, Mitochondrial DNA depletion syndrome, myopathic form	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13766894.	NM_004614.5(TK2):c.231+10C>T GRCh37: Chr16:66575772 GRCh38: Chr16:66541869	TK2		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, Mitochondrial DNA depletion syndrome, myopathic form, not provided, not specified, Mitochondrial DNA depletion syndrome, myopathic form	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13766795.	NM_004614.5(TK2):c.157-12G>A GRCh37: Chr16:66575868 GRCh38: Chr16:66541965	TK2		not specified, not provided, Mitochondrial DNA depletion syndrome, myopathic form	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13766696.	NM_004614.5(TK2):c.-30C>G GRCh37: Chr16:66583994 GRCh38: Chr16:66550091	TK2		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, not specified, Mitochondrial DNA depletion syndrome, myopathic form	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13766597.	NM_004614.5(TK2):c.-38A>G GRCh37: Chr16:66584002 GRCh38: Chr16:66550099	TK2		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, not specified, Mitochondrial DNA depletion syndrome, myopathic form	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13766498.	NM_004614.5(TK2):c.700-13G>A GRCh37: Chr16:66545982 GRCh38: Chr16:66512079	TK2		not specified, not provided, Mitochondrial DNA depletion syndrome, myopathic form	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13766399.	NM_004614.5(TK2):c.576G>A (p.Arg192=) GRCh37: Chr16:66551081 GRCh38: Chr16:66517178	TK2		not provided, not specified, Mitochondrial DNA depletion syndrome, myopathic form	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137661100.	NM_004614.5(TK2):c.449+14A>C GRCh37: Chr16:66562883 GRCh38: Chr16:66528980	TK2		not specified, not provided, Mitochondrial DNA depletion syndrome, myopathic form	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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