"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG +1 more (Q1236H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +12 more	GBenign/Likely benign
Select item 138763	NM_002693.3(POLG):c.3483-19T>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 21312	NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	FANCI, POLG +1 more (E1143G)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 138754	NM_002693.3(POLG):c.3105-11T>C	FANCI, POLG +1 more	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 206528	NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	POLG, POLGARF (R852C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +9 more	GPathogenic
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG, POLGARF (G848S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +11 more	GPathogenic
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	POLG-related disorder +14 more	GConflicting classifications of pathogenicity
Select item 13496	NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	POLG, POLGARF (A467T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GPathogenic
Select item 167522	NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	Inborn genetic diseases +11 more	GBenign/Likely benign
Select item 167521	NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)	POLG, POLGARF (Q55del)	Microsatellite (inframe_deletion)	not specified +6 more	GBenign/Likely benign
Select item 195182	NM_002693.3(POLG):c.32G>A (p.Gly11Asp)	POLG, POLGARF (G11D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +11 more	GConflicting classifications of pathogenicity