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

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215019	NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)	MILR1, POLG2 (D473N)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 1343946	NM_007215.4(POLG2):c.1363C>A (p.Leu455Met)	MILR1, POLG2 (L455M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138783	NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)	POLG2, MILR1 (G416A)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +3 more	GBenign/Likely benign
Select item 215018	NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu)	MILR1, POLG2 (D386E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 40248	NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)	POLG2, MILR1 (R369G)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +2 more	GBenign/Likely benign
Select item 1343951	NM_007215.4(POLG2):c.851G>A (p.Arg284Gln)	MILR1, POLG2 (R284Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1343950	NM_007215.4(POLG2):c.776G>A (p.Arg259Gln)	MILR1, POLG2 (R259Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 377256	NM_007215.4(POLG2):c.694G>A (p.Gly232Ser)	MILR1, POLG2 (G232S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 324559	NM_007215.4(POLG2):c.674G>A (p.Arg225Gln)	MILR1, POLG2 (R225Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1343948	NM_007215.4(POLG2):c.520G>A (p.Val174Ile)	MILR1, POLG2 (V174I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215017	NM_007215.4(POLG2):c.457C>G (p.Leu153Val)	MILR1, POLG2 (L153V)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +2 more	GBenign/Likely benign
Select item 215023	NM_007215.4(POLG2):c.397C>T (p.His133Tyr)	MILR1, POLG2 (H133Y)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 378408	NM_007215.4(POLG2):c.315G>A (p.Glu105=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1343947	NM_007215.4(POLG2):c.274C>G (p.Leu92Val)	MILR1, POLG2 (L92V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance