"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 245862	NM_002691.4(POLD1):c.80A>T (p.Asp27Val)	POLD1 (D27V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 221136	NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)	POLD1 (G321S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +6 more	GConflicting classifications of pathogenicity
Select item 220754	NM_002691.4(POLD1):c.1138-8A>G	POLD1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 220890	NM_002691.4(POLD1):c.1620C>T (p.Gly540=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GBenign/Likely benign
Select item 221165	NM_002691.4(POLD1):c.1977C>T (p.Ile659=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 246171	NM_002691.4(POLD1):c.2178G>C (p.Gln726His)	POLD1 (Q726H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

ClinVar