"Genetics and Molecular Pathology, SA Pathology"[submitter] AND "POLGA - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 888159	NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)	POLG, POLGARF (G1051W)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 129994	NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)	POLGARF, POLG (V1044A)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +11 more	GConflicting classifications of pathogenicity
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG, POLGARF (G848S)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +11 more	GPathogenic
Select item 13513	NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	POLG, POLGARF (G737R)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +9 more	GPathogenic/Likely pathogenic
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +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)	Progressive sclerosing poliodystrophy +12 more	GPathogenic
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG, POLGARF (T251I)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +15 more	GConflicting classifications of pathogenicity