"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "POLG2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138784	NM_007215.4(POLG2):c.1269C>T (p.Ser423=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +2 more	GBenign
Select item 1440749	NM_007215.4(POLG2):c.1267T>G (p.Ser423Ala)	MILR1, POLG2 (S423A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260154	NM_007215.4(POLG2):c.1191+6dup	MILR1, POLG2	Duplication (intron variant)	Mitochondrial DNA depletion syndrome 16 (hepatic type) +5 more	GBenign
Select item 215020	NM_007215.4(POLG2):c.927C>T (p.His309=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2998698	NM_007215.4(POLG2):c.798T>G (p.Phe266Leu)	MILR1, POLG2 (F266L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215034	NM_007215.4(POLG2):c.590T>C (p.Leu197Pro)	MILR1, POLG2 (L197P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 138782	NM_007215.4(POLG2):c.505G>A (p.Ala169Thr)	MILR1, POLG2 (A169T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign

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