"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344484	NM_002693.3(POLG):c.2171G>T (p.Gly724Val)	POLG, POLGARF (G724V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 499724	NM_002693.3(POLG):c.522C>G (p.Gly174=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 699929	NM_002693.3(POLG):c.484C>T (p.Leu162=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1343945	NM_002693.3(POLG):c.479C>T (p.Ala160Val)	POLG, POLGARF (A160V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 317335	NM_002693.3(POLG):c.452T>C (p.Leu151Pro)	POLG, POLGARF (L151P)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
Select item 129992	NM_002693.3(POLG):c.264C>T (p.Phe88=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 206484	NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 167522	NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	not provided +11 more	GBenign/Likely benign
Select item 206481	NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)	POLG, POLGARF	Microsatellite (inframe_deletion)	Mitochondrial DNA depletion syndrome 4b +9 more	GBenign/Likely benign
Select item 206480	NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)	POLG, POLGARF	Microsatellite (inframe_deletion)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 167521	NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)	POLG, POLGARF (Q55del)	Microsatellite (inframe_deletion)	not specified +5 more	GBenign/Likely benign
Select item 419072	NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 129989	NM_002693.3(POLG):c.128A>G (p.Gln43Arg)	POLG, POLGARF (Q43R)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 206476	NM_002693.3(POLG):c.125G>A (p.Arg42Gln)	POLG, POLGARF (R42Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 138755	NM_002693.3(POLG):c.87C>T (p.Ser29=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +5 more	GConflicting classifications of pathogenicity
Select item 586363	NM_002693.3(POLG):c.38C>G (p.Thr13Ser)	POLG, POLGARF (T13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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