"Laboratory of Inherited Metabolic Diseases, Research centre for medic - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 694430	NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)	POLG, POLGARF (Y1210*)	Single nucleotide variant (nonsense)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	GPathogenic
Select item 694422	NM_002693.3(POLG):c.3522C>A (p.Pro1174=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Alpers-like hepatocerebral syndrome	GLikely pathogenic
Select item 694424	NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)	POLG, POLGARF (L931R)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	GLikely pathogenic
Select item 694423	NM_002693.3(POLG):c.2678C>T (p.Ser893Phe)	POLG (S893F)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	GLikely pathogenic
Select item 694429	NM_002693.3(POLG):c.2665G>C (p.Ala889Pro)	POLG, POLGARF (A889P)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 641822	NM_002693.3(POLG):c.2591A>T (p.Asn864Ile)	POLG (N864I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GConflicting classifications of pathogenicity
Select item 694425	NM_002693.3(POLG):c.2310C>A (p.Phe770Leu)	POLG, POLGARF (F770L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 694428	NM_002693.3(POLG):c.1140dup (p.Thr381fs)	POLG, POLGARF (T381fs)	Duplication (frameshift variant)	mitochondrial hepatopathy	GPathogenic
Select item 694426	NM_002693.3(POLG):c.951_961dup (p.Lys321fs)	POLG, POLGARF (K321fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 694427	NM_002693.3(POLG):c.75G>A (p.Trp25Ter)	POLG, POLGARF (W25*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GPathogenic