"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206581	NM_002693.3(POLG):c.678G>C (p.Gln226His)	POLG, POLGARF (Q226H)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +9 more	GConflicting classifications of pathogenicity
Select item 129992	NM_002693.3(POLG):c.264C>T (p.Phe88=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 206482	NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	not specified +8 more	GBenign/Likely benign
Select item 167522	NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	Recessive mitochondrial ataxia syndrome +11 more	GBenign/Likely benign
Select item 206481	NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)	POLG, POLGARF	Microsatellite (inframe_deletion)	Progressive sclerosing poliodystrophy +9 more	GBenign/Likely benign
Select item 167521	NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)	POLG, POLGARF (Q55del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +5 more	GBenign/Likely benign

ClinVar