C1843851[trait identifier] AND "Greenwood Genetic Center Diagnostic La - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13513	NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	POLG, POLGARF (G737R)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 206602	NM_002693.3(POLG):c.1808T>C (p.Met603Thr)	POLG, POLGARF (M603T)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	Global developmental delay +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)	Progressive sclerosing poliodystrophy +15 more	GConflicting classifications of pathogenicity
Select item 1412024	NM_002693.3(POLG):c.624C>A (p.Cys208Ter)	POLG, POLGARF (C208*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic

ClinVar