"GeneDx"[submitter] AND "TK2"[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 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 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 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 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 384234	NM_004614.5(TK2):c.727A>C (p.Arg243=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 137664	NM_004614.5(TK2):c.700-13G>A	TK2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1270584	NM_004614.5(TK2):c.700-60G>A	TK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201936	NM_004614.5(TK2):c.699+79C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1420246	NM_004614.5(TK2):c.694G>A (p.Val232Ile)	TK2 (V207I +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1327192	NM_004614.5(TK2):c.688del (p.Ala230fs)	TK2 (A133fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
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 1190844	NM_004614.5(TK2):c.623A>G (p.Tyr208Cys)	TK2 (T121A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 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 673677	NM_004614.5(TK2):c.619-63C>G	TK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201292	NM_004614.5(TK2):c.619-161G>A	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 38995	NM_004614.5(TK2):c.604_606del (p.Lys202del)	TK2 (K202del +5 more)	Deletion (inframe_deletion +2 more)	Mitochondrial DNA depletion syndrome, myopathic form +2 more	GPathogenic/Likely pathogenic
Select item 280624	NM_004614.5(TK2):c.583A>T (p.Lys195Ter)	TK2 (K195* +5 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 137663	NM_004614.5(TK2):c.576G>A (p.Arg192=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 38994	NM_004614.5(TK2):c.575G>A (p.Arg192Lys)	TK2 (R192K +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1208662	NM_004614.5(TK2):c.547C>A (p.Arg183=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 137662	NM_004614.5(TK2):c.539-20A>G	TK2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 670748	NM_004614.5(TK2):c.539-176G>A	TK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217073	NM_004614.5(TK2):c.538+129G>A	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 453102	NM_004614.5(TK2):c.520G>C (p.Val174Leu)	TK2 (V174L +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 379673	NM_004614.5(TK2):c.514A>G (p.Met172Val)	TK2 (M172V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 388277	NM_004614.5(TK2):c.486G>T (p.Ser162=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 215267	NM_004614.5(TK2):c.469G>A (p.Asp157Asn)	TK2 (D157N +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 676458	NM_004614.5(TK2):c.449+130C>T	TK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137661	NM_004614.5(TK2):c.449+14A>C	TK2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 515295	NM_004614.5(TK2):c.444T>C (p.Tyr148=)	TK2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
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 38990	NM_004614.5(TK2):c.416C>T (p.Ala139Val)	TK2 (A139V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 38988	NM_004614.5(TK2):c.388C>T (p.Arg130Trp)	TK2 (R130W +5 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form +1 more	GPathogenic
Select item 1700992	NM_004614.5(TK2):c.376G>A (p.Val126Met)	TK2 (V101M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 676455	NM_004614.5(TK2):c.376-119C>A	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279448	NM_004614.5(TK2):c.376-260C>T	TK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679964	NM_004614.5(TK2):c.375+227T>A	TK2	Single nucleotide variant (intron variant)	not provided	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 1203510	NM_004614.5(TK2):c.367C>T (p.Arg123Cys)	TK2 (R105C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 669613	NM_004614.5(TK2):c.360G>A (p.Arg120=)	TK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 12710	NM_004614.5(TK2):c.323C>T (p.Thr108Met)	TK2 (T108M +5 more)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 +3 more	GPathogenic
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 1207846	NM_004614.5(TK2):c.286-31G>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229516	NM_004614.5(TK2):c.286-120T>C	TK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 38983	NM_004614.5(TK2):c.278A>G (p.Asn93Ser)	TK2 (N93S +3 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 38982	NM_004614.5(TK2):c.268C>T (p.Arg90Cys)	TK2 (R90C +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely pathogenic
Select item 1380074	NM_004614.5(TK2):c.239C>T (p.Thr80Met)	TK2 (T49M +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 451619	NM_004614.5(TK2):c.232G>A (p.Val78Met)	TK2 (V78M +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1199947	NM_004614.5(TK2):c.231+265C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217155	NM_004614.5(TK2):c.231+260C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515507	NM_004614.5(TK2):c.231+18G>A	TK2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely 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
Select item 38979	NM_004614.5(TK2):c.191C>T (p.Thr64Met)	TK2 (T64M +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 421862	NM_004614.5(TK2):c.181A>G (p.Ser61Gly)	TK2 (S61G +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 38978	NM_004614.5(TK2):c.173A>G (p.Asn58Ser)	TK2 (N58S +2 more)	Single nucleotide variant (missense variant +3 more)	Mitochondrial DNA depletion syndrome, myopathic form +2 more	GPathogenic/Likely pathogenic
Select item 137667	NM_004614.5(TK2):c.157-12G>A	TK2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1250814	NM_004614.5(TK2):c.157-240G>A	TK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205216	NM_004614.5(TK2):c.157-241C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187900	NM_004614.5(TK2):c.156+1103C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300377	NM_004614.5(TK2):c.156+937A>G	TK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1213516	NM_004614.5(TK2):c.156+182A>G	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137660	NM_004614.5(TK2):c.156+15T>C	TK2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 513174	NM_004614.5(TK2):c.156+8C>T	TK2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 38977	NM_004614.5(TK2):c.156+2T>C	TK2	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome +1 more	GPathogenic/Likely pathogenic
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 38974	NM_004614.5(TK2):c.133C>T (p.Gln45Ter)	TK2 (Q45* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 390892	NM_004614.5(TK2):c.125-10T>C	TK2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 676447	NM_004614.5(TK2):c.125-116G>A	TK2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 676431	NM_004614.5(TK2):c.124+223C>G	TK2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 676430	NM_004614.5(TK2):c.124+194T>C	TK2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 676446	NM_004614.5(TK2):c.124+136A>G	TK2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1192175	NM_004614.5(TK2):c.124+91G>A	TK2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 215262	NM_004614.5(TK2):c.122C>A (p.Pro41His)	LOC130059156, TK2 (P41H)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280013	NM_004614.5(TK2):c.103C>T (p.Gln35Ter)	TK2, LOC130059156 (Q35*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 215261	NM_004614.5(TK2):c.94C>T (p.Arg32Trp)	LOC130059156, TK2 (R32W)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GBenign/Likely benign
Select item 1279564	NM_004614.5(TK2):c.89G>A (p.Gly30Glu)	LOC130059156, TK2 (G30E)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 1196443	NM_004614.5(TK2):c.80C>T (p.Ser27Leu)	LOC130059156, TK2 (S27L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2429649	NM_004614.5(TK2):c.31G>A (p.Ala11Thr)	LOC130059156, TK2 (A11T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 137666	NM_004614.5(TK2):c.-30C>G	TK2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GBenign
Select item 137665	NM_004614.5(TK2):c.-38A>G	TK2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GBenign
Select item 669178	NM_004614.4(TK2):c.-199T>C	TK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 391386	NM_004614.4(TK2):c.-256T>A	TK2	Single nucleotide variant	not specified	GLikely benign
Select item 672503	NM_004614.4(TK2):c.-517T>A	TK2	Single nucleotide variant	not provided	GBenign

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Items: 88