ClinVar for MedGen (Select 934701) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628100	NM_004614.5(TK2):c.126_128del (p.Asp42_Lys43delinsGlu)	TK2	Deletion (inframe_indel +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	GUncertain significance
Select item 1323691	NM_004614.5(TK2):c.441del (p.Tyr148fs)	TK2 (Y117fs +5 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 673678	NM_004614.5(TK2):c.619-53A>G	TK2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, myopathic form +2 more	GBenign
Select item 137668	NM_004614.5(TK2):c.231+10C>T	TK2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, myopathic form +4 more	GBenign/Likely benign
Select item 137666	NM_004614.5(TK2):c.-30C>G	TK2	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 +2 more	GBenign
Select item 137665	NM_004614.5(TK2):c.-38A>G	TK2	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 +2 more	GBenign
Select item 38993	NM_004614.5(TK2):c.562A>G (p.Thr188Ala)	TK2 (T188A +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 38992	NM_004614.5(TK2):c.547C>T (p.Arg183Trp)	TK2 (R183W +5 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome +2 more	GPathogenic
Select item 38990	NM_004614.5(TK2):c.416C>T (p.Ala139Val)	TK2 (A139V +5 more)	Single nucleotide variant (missense variant +1 more)	TK2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 38978	NM_004614.5(TK2):c.173A>G (p.Asn58Ser)	TK2 (N58S +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 12710	NM_004614.5(TK2):c.323C>T (p.Thr108Met)	TK2 (T108M +5 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome, myopathic form +3 more	GPathogenic