ClinVar for MedGen (Select 461100) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251999	NM_004614.5(TK2):c.166G>C (p.Glu56Gln)	TK2 (E25Q +2 more)	Single nucleotide variant (missense variant +3 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 2585339	NM_004614.5(TK2):c.402G>T (p.Arg134Ser)	TK2 (R116S +5 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GLikely pathogenic
Select item 2419100	NM_004614.5(TK2):c.557C>G (p.Pro186Arg)	TK2 (P137R +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1709544	NM_004614.5(TK2):c.124+3A>G	LOC130059156, TK2	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 1686262	NM_004614.5(TK2):c.414C>A (p.Ser138Arg)	TK2 (S107R +5 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GPathogenic
Select item 1686261	NM_004614.5(TK2):c.692C>T (p.Pro231Leu)	TK2 (P134L +5 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome, myopathic form	GPathogenic
Select item 1470389	NM_004614.5(TK2):c.473A>G (p.Tyr158Cys)	TK2 (Y109C +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1323691	NM_004614.5(TK2):c.441del (p.Tyr148fs)	TK2 (Y117fs +5 more)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form +2 more	GPathogenic/Likely pathogenic
Select item 972914	NM_004614.5(TK2):c.328C>T (p.Gln110Ter)	TK2 (Q110* +5 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GPathogenic
Select item 972913	NM_004614.5(TK2):c.659T>C (p.Leu220Pro)	TK2 (L123P +6 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form +2 more	GConflicting classifications of pathogenicity
Select item 972912	NM_004614.5(TK2):c.144_145del (p.Lys50fs)	TK2 (K19fs +1 more)	Microsatellite (frameshift variant +2 more)	Mitochondrial DNA depletion syndrome, myopathic form +1 more	GPathogenic
Select item 887675	NM_004614.5(TK2):c.125-13C>T	TK2	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form +1 more	GConflicting classifications of pathogenicity
Select item 887674	NM_004614.5(TK2):c.125A>C (p.Asp42Ala)	TK2 (D11A +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
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 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 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 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 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 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 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 887487	NM_004614.5(TK2):c.300C>T (p.His100=)	TK2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887486	NM_004614.5(TK2):c.414C>T (p.Ser138=)	TK2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887485	NM_004614.5(TK2):c.519C>T (p.Asp173=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887483	NM_004614.5(TK2):c.620A>T (p.Glu207Val)	TK2 (E158V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	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 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 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 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 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 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 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 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 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 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 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 885400	NM_004614.5(TK2):c.699+13C>T	TK2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, myopathic form	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 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 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 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 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 884525	NM_004614.4(TK2):c.-70T>A	TK2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 884524	NM_004614.5(TK2):c.-43G>C	TK2	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
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 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 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 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 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 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 694443	NM_004614.5(TK2):c.169G>A (p.Gly57Ser)	TK2 (G26S +2 more)	Single nucleotide variant (missense variant +3 more)	Mitochondrial DNA depletion syndrome, myopathic form	GLikely pathogenic
Select item 694441	NM_004614.5(TK2):c.655T>C (p.Trp219Arg)	TK2 (W122R +5 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome, myopathic form	GLikely pathogenic
Select item 694440	NM_004614.5(TK2):c.338T>A (p.Val113Glu)	TK2 (V113E +5 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form	GLikely pathogenic
Select item 694439	NM_004614.5(TK2):c.310C>T (p.Arg104Cys)	TK2 (R104C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 673678	NM_004614.5(TK2):c.619-53A>G	TK2	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 +2 more	GBenign
Select item 450835	NM_004614.5(TK2):c.497A>T (p.Asp166Val)	TK2 (D166V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374701	NM_004614.5(TK2):c.375G>C (p.Gln125His)	TK2 (Q125H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 320161	NM_004614.4(TK2):c.-216G>A	TK2 (A3T)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, myopathic form	GLikely benign
Select item 320160	NM_004614.5(TK2):c.-48G>A	TK2	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320159	NM_004614.5(TK2):c.124+6G>C	LOC130059156, TK2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GUncertain significance
Select item 320158	NM_004614.5(TK2):c.288C>T (p.Gly96=)	TK2	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial DNA depletion syndrome, myopathic form	GUncertain significance
Select item 320157	NM_004614.5(TK2):c.450-13A>G	TK2	Single nucleotide variant (intron variant)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 265614	NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter)	TK2 (Q28* +5 more)	Indel (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 225491	NM_004614.5(TK2):c.699+6_699+9del	TK2	Microsatellite (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215268	NM_004614.5(TK2):c.680C>T (p.Pro227Leu)	TK2 (P227L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 215262	NM_004614.5(TK2):c.122C>A (p.Pro41His)	TK2, LOC130059156 (P41H)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215261	NM_004614.5(TK2):c.94C>T (p.Arg32Trp)	LOC130059156, TK2 (R32W)	Single nucleotide variant (missense variant +3 more)	Mitochondrial DNA depletion syndrome, myopathic form +2 more	GBenign/Likely benign
Select item 137668	NM_004614.5(TK2):c.231+10C>T	TK2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, myopathic form +3 more	GBenign/Likely benign

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