ClinVar for PubMed (Select 25370038) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 184389	NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)	MSH6 (R1334W +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 140866	NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)	MSH6 (R1242H +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +6 more	GPathogenic/Likely pathogenic
Select item 91154	NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)	MSH2 (Q215* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
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
Select item 40044	NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)	POLD1 (S478N)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GPathogenic/Likely pathogenic

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