ClinVar for PMC (Select 3017602) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 803122	NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)	POLG, POLGARF (Y282D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 288868	NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)	LOC130009747, SUCLA2 (R17G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 279961	NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	POLG (T914P)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +8 more	GPathogenic/Likely pathogenic
Select item 215226	NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)	SURF1 (N249D +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 206557	NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	POLG (R1096H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 137462	NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)	GFM1 (N43D)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 21313	NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)	POLG (R1146C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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