C3150914[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138760	NM_002693.3(POLG):c.3482+6C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 206475	NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)	POLG, POLGARF (Y1108F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 239380	NM_002693.3(POLG):c.3075G>A (p.Leu1025=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GLikely benign
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 625997	NM_002693.3(POLG):c.2466C>G (p.Pro822=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 4b +4 more	GUncertain significance
Select item 13513	NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	POLG, POLGARF (G737R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GPathogenic/Likely pathogenic
Select item 206462	NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)	POLG, POLGARF (G674D)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +9 more	GConflicting classifications of pathogenicity
Select item 193643	NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	POLG, POLGARF (H613Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 65665	NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	POLG, POLGARF (G517V)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +11 more	GConflicting classifications of pathogenicity
Select item 206596	NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	POLG, POLGARF (N468D)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +12 more	GConflicting classifications of pathogenicity
Select item 206586	NM_002693.3(POLG):c.862C>T (p.Arg288Cys)	POLG, POLGARF (R288C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
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
Select item 807308	NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	POLG, POLGARF (G111R)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +6 more	GUncertain significance
Select item 206619	NM_002693.3(POLG):c.328C>T (p.His110Tyr)	POLG, POLGARF (H110Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity