ClinVar for PubMed (Select 25529843) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1486945	NM_002692.4(POLE2):c.1406dup (p.Leu469fs)	POLE2 (L468fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1384901	NM_002692.4(POLE2):c.823C>A (p.Leu275Ile)	POLE2 (L275I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370405	NM_006231.4(POLE):c.1270C>A (p.Leu424Ile)	POLE (L424I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 928703	NM_006231.4(POLE):c.1306C>T (p.Pro436Ser)	POLE (P436S)	Single nucleotide variant (missense variant)	Colorectal cancer	GLikely pathogenic
Select item 818751	NM_006231.4(POLE):c.1270C>T (p.Leu424Phe)	POLE (L424F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 414765	NM_002691.4(POLD1):c.55C>T (p.Arg19Cys)	POLD1 (R19C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 265355	NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)	POLE (A895T)	Single nucleotide variant (missense variant)	Hereditary cancer +6 more	GConflicting classifications of pathogenicity
Select item 239294	NM_002691.4(POLD1):c.245C>T (p.Pro82Leu)	POLD1 (P82L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GUncertain significance
Select item 221066	NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)	POLE (R446Q)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 40046	NM_006231.4(POLE):c.1270C>G (p.Leu424Val)	POLE (L424V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic