"3billion"[submitter] AND "POLG"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206618	NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)	POLG (L1170R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GConflicting classifications of pathogenicity
Select item 2444357	NM_002693.3(POLG):c.3393C>G (p.Ile1131Met)	POLG (I1131M)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	GUncertain significance
Select item 206556	NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	POLG (R1096C)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 206548	NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	POLG (R1047W)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +5 more	GConflicting classifications of pathogenicity
Select item 206537	NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	POLG (R964C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +8 more	GConflicting classifications of pathogenicity
Select item 13507	NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	POLG (W748S)	Single nucleotide variant (missense variant)	Mitochondrial disease +8 more	GPathogenic/Likely pathogenic
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG (P587L)	Single nucleotide variant (missense variant)	Mitochondrial disease +15 more	GConflicting classifications of pathogenicity
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG (T251I)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +16 more	GConflicting classifications of pathogenicity