ClinVar for MedGen (Select 1684495) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342575	NM_007215.4(POLG2):c.775C>T (p.Arg259Ter)	MILR1, POLG2 (R259*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1341911	NM_007215.4(POLG2):c.1031G>A (p.Arg344Gln)	MILR1, POLG2 (R344Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 16 (hepatic type) +1 more	GUncertain significance
Select item 1242149	NM_007215.4(POLG2):c.1110+44T>C	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 982893	NM_007215.4(POLG2):c.730C>A (p.Pro244Thr)	POLG2, MILR1 (P244T)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 16 (hepatic type)	GUncertain significance
Select item 260154	NM_007215.4(POLG2):c.1191+6dup	MILR1, POLG2	Duplication (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +5 more	GBenign
Select item 138782	NM_007215.4(POLG2):c.505G>A (p.Ala169Thr)	MILR1, POLG2 (A169T)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 16 (hepatic type) +4 more	GBenign

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