CN180166[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 381517	NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)	POLG, POLGARF (S1095R)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GPathogenic/Likely pathogenic
Select item 448104	NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	POLG, POLGARF (A889T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 138750	NM_002693.3(POLG):c.2601T>C (p.Pro867=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +4 more	GConflicting classifications of pathogenicity
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG, POLGARF (G848S)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +11 more	GPathogenic
Select item 432080	NM_002693.3(POLG):c.2383A>C (p.Asn795His)	POLG, POLGARF (N795H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 13507	NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	POLG, POLGARF (W748S)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 13496	NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	POLG, POLGARF (A467T)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +12 more	GPathogenic
Select item 196354	NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	POLG, POLGARF (G268A)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +11 more	GConflicting classifications of pathogenicity