rs113994096[Variant ID] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +14 more	GConflicting classifications of pathogenicity
Select item 1698500	NM_002693.3(POLG):c.[1760C>T;752C>T]	POLG, POLGARF (T251I +1 more)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +1 more	GPathogenic