ClinVar for MedGen (Select 155968) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 405572	NM_002693.3(POLG):c.641C>T (p.Ala214Val)	POLG, POLGARF (A214V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +4 more	GUncertain significance
Select item 206492	NM_002693.3(POLG):c.391T>C (p.Tyr131His)	POLG, POLGARF (Y131H)	Single nucleotide variant (missense variant)	POLG-related disorder +7 more	GConflicting classifications of pathogenicity