C1843851[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1453904	NM_002693.3(POLG):c.3482+2T>C	POLG	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy +4 more	GPathogenic/Likely pathogenic
Select item 13507	NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	POLG (W748S)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +11 more	GPathogenic/Likely pathogenic
Select item 13513	NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	POLG (G737R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +10 more	GPathogenic/Likely pathogenic
Select item 206606	NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)	POLG (P648R)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GPathogenic/Likely pathogenic
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG (P587L)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +16 more	GConflicting classifications of pathogenicity
Select item 206596	NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	POLG (N468D)	Single nucleotide variant (missense variant)	Mitochondrial disease +11 more	GConflicting classifications of pathogenicity
Select item 13496	NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	POLG (A467T)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG (T251I)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +18 more	GConflicting classifications of pathogenicity
Select item 206577	NM_002693.3(POLG):c.428C>T (p.Ala143Val)	POLG, POLGARF (A143V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic