C0205710[trait identifier] AND "Laboratory of Inherited Metabolic Dise - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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

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